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22 Cards in this Set
- Front
- Back
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Why take the time to attempt to identify a complicated, genetic diagnosis?
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1. Allows earlier diagnosis in other family members that may be affected
2. Prevents unnecessary additional diagnostic evaluations 3. Can intervene early on 4. Genetic counseling 5. Psychological well-being for the family |
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Even though genetic disorders are rare, they comprise of how many recognized disorders and they affect how many Americans?
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Comprise of over 15,500 disorders and affect more than 13 million Americans
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How many newborns & stillborns have some sort of chromosomal abnormality
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0.5% of all newborns & 7% of all stillborns
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What percent of post-neonatal deaths are due to congenital malformation?
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30-50%
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What percent of infant deaths are due to genetic disorders
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20-30%
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What percent of children are in the hospital because of congenital malformations
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18.5-50%
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What percent of adult hospital admissions are for genetic causes?
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12%
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What percent of all cancers have an inherited susceptibility?
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15%
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what percent of all chronic diseases, such as heart disease and arthritis, have a significant genetic component?
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10%
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What percent of mental retardation has a genetic basis?
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50%
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If draw a pie chart, the largest/smallest portions are?
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Largest portions represents those defects that are considered "isolated".
The other chunks of the pie represent those which are NOT isolated |
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A recurring pattern of multiple congenital anomalies or physical signs that represent a specific etiology (cause) due to either genetic and/or enviornmental causes
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Syndrome
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A single event/anomaly that results in a cascade effect and multiple malformations
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Sequence
Ie: Pierre-Robin sequence |
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Pierre-Robin Sequence
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In utero, baby is in the uterus and mom has a fibroid. The chin gets jammed up against the wall and can't grow forard, so the chin is very small. As a result, the tongue gets shoved up into the palate. Results in micrognathia
Example of Sequence |
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A non-random occurance of multiple congenital anomalies that are NOT associated with a specific genetic etiology
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Association
They happen more commonly than chance alone would predict, suggesting a link. |
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VACTERL
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Vertebral anomalies, anal anomalies, cardiac anomalies, tracheoesophogeal fistula, renal defects, limb defects
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How to make a genetic diagnosis?
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1. Complete medical history
2. Family history & pedigree 3. Physical examination 4. Differential Diagnosis 5. Laboratory Investigations 6. Referrals 7. Diagnosis (50-60% can't make one) 8. Follow-up |
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The study of abnormal embryonic & fetal developoment and the resultant change (anomaly) in body form that occurs because of that.
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Dysmorphology
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Malformations due to primary defect that occurs early on in gestation
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Anomalies
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The percent of individuals with major malformation increases/decreases with the number of minor anomalies
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Increases
Once we hit 3 minor anomalies, the percent of individuals with major malformations jumps to 90% |
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Single structural defects that are NOT associated with a syndrome
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Isolated anomalies
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2 or more defects in 2 or more systems
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Multiple Congenital Anomalies or Syndrome
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